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1.
[Analysis of MTHFR gene variants in fifteen children with hyperhomocysteinemia].
Zhonghua Yi Xue Za Zhi
; 104(24): 2256-2259, 2024 Jun 25.
Artículo
en Zh
| MEDLINE | ID: mdl-38901983
2.
[Clinical features and gene mutations of 6 patients with carnitine palmitoyltransferase 1A deficiency].
Zhonghua Yi Xue Za Zhi
; 101(14): 1041-1044, 2021 Apr 13.
Artículo
en Zh
| MEDLINE | ID: mdl-33845545
3.
[Clinical characteristics of 111 cases with mucopolysaccharidosis â £A].
Zhonghua Er Ke Za Zhi
; 61(6): 503-508, 2023 Jun 02.
Artículo
en Zh
| MEDLINE | ID: mdl-37312460
4.
[Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids].
Zhonghua Er Ke Za Zhi
; 60(6): 522-526, 2022 Jun 02.
Artículo
en Zh
| MEDLINE | ID: mdl-35658356
5.
[Clinical and StAR genetic characteristics of 33 children with congenital lipoid adrenal hyperplasia].
Zhonghua Er Ke Za Zhi
; 60(10): 1066-1071, 2022 Oct 02.
Artículo
en Zh
| MEDLINE | ID: mdl-36207855
6.
[Analysis of six children with 3-methylglutaconic aciduria].
Zhonghua Er Ke Za Zhi
; 59(8): 695-699, 2021 Aug 02.
Artículo
en Zh
| MEDLINE | ID: mdl-34333924
7.
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.
J Inherit Metab Dis
; 32 Suppl 1: S295-302, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19728141
8.
[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia].
Zhonghua Er Ke Za Zhi
; 56(6): 435-439, 2018 Jun 02.
Artículo
en Zh
| MEDLINE | ID: mdl-29886606
9.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
J Inherit Metab Dis
; 30(4): 507-14, 2007 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-17347912
10.
[Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type â ¡ with hypertrophic cardiomyopathy].
Zhonghua Er Ke Za Zhi
; 55(6): 423-427, 2017 Jun 02.
Artículo
en Zh
| MEDLINE | ID: mdl-28592009
11.
[Mass spectrometry combined with gene analysis for prenatal diagnosis of glutaric acidemia type â ].
Zhonghua Er Ke Za Zhi
; 55(7): 539-543, 2017 Jul 02.
Artículo
en Zh
| MEDLINE | ID: mdl-28728265
12.
[Blood 7-ketocholesterol level, clinical features and gene mutation analysis of 18 children with Niemann-Pick disease type C].
Zhonghua Er Ke Za Zhi
; 54(6): 419-23, 2016 Jun 02.
Artículo
en Zh
| MEDLINE | ID: mdl-27256227
13.
[Analysis of phenotypes and genotypes in 66 patients with 21-hydroxylase deficiency identified by neonatal screening].
Zhonghua Er Ke Za Zhi
; 54(9): 679-85, 2016 Sep.
Artículo
en Zh
| MEDLINE | ID: mdl-27596083
14.
[Applying multiplex ligation-dependent probe amplification in the diagnosis of 5 cases with ornithine transcarbamylase deficiency].
Zhonghua Er Ke Za Zhi
; 54(6): 437-40, 2016 Jun 02.
Artículo
en Zh
| MEDLINE | ID: mdl-27256231
15.
[Clinical and genetic analysis of an infant with isolated 17, 20-lyase deficiency].
Zhonghua Er Ke Za Zhi
; 54(8): 619-22, 2016 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-27510877
16.
[Crohn's disease in glycogen storage disease type I b: a case report].
Zhonghua Er Ke Za Zhi
; 55(2): 144-145, 2017 Feb 02.
Artículo
en Zh
| MEDLINE | ID: mdl-28173655
17.
Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients.
J Inherit Metab Dis
; 26(8): 811-2, 2003.
Artículo
en Inglés
| MEDLINE | ID: mdl-14765536
18.
Unfolding and inactivation of Penaeus penicillatus acid phosphatase during denaturation by guanidine hydrochloride.
Biochem Mol Biol Int
; 42(3): 517-26, 1997 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-9247709
19.
Differential molecular assemblies underlie the dual function of Axin in modulating the WNT and JNK pathways.
J Biol Chem
; 276(34): 32152-9, 2001 Aug 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-11408485
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